Smiles Included: Navigating through life with our rare disease superheroes

• Cynthia Lang: Inspiring Progress in SKDEAS Research & Treatments

  Get ready for an inspiring episode of the Smiles Included Podcast as we welcome back Cynthia Lang. She returns with a heartfelt update on her ongoing quest to find a treatment for her son, Sebastian, and shares exciting news about the Skraban-Deardorff Syndrome Foundation's role in advancing this critical research.Discover how Transcripta Bio, formerly known as Rarebase, is making significant strides in rare disease research through innovative drug repurposing techniques. Cynthia’s journey began over two years ago, and the groundbreaking work of Transcripta Bio is bringing her closer to realizing her dream of a treatment for Sebastian.Tune in to hear about potential breakthrough drugs and groundbreaking collaborations with leading doctors and institutions that could transform the future for the rare disease community. Cynthia will also offer guidance on how you can get involved and support this vital ongoing research.TranscriptaBio.comPlease visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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• Dr. Thomas Frazier and Katie Huba: Groundbreaking research to understand the cognitive and behavioral patterns of WDR26 patients

  Discover the groundbreaking strides being made in research on the WDR26 mutation as I talk to Dr. Thomas Frazier and his Research Coordinator, Katie Huba. This episode takes us through a new path towards understanding and improving the lives of those affected by rare genetic conditions.  Dr. Frazier talks to us about his new study that leverages parent-reported questionnaires and innovative webcam assessments to unravel the cognitive and behavioral patterns in individuals with Skraban-Deardorff Syndrome. Research into rare diseases often brings a mix of apprehension and optimism. Here, we tackle the details of study participation, addressing the eligibility concerns of parents while highlighting the transformative benefits for their children.  This conversation is an invitation to view research not as a daunting task, but as a means to glean a deeper understanding of your child's needs, offering strategic insights for the present and a beacon of hope for future medical advancements.As we explore the ways in which this study could transform care for those with WDR26 mutations, we invite eligible participants to join this collective effort.  Please reach out to Katie Huba to discuss:[email protected].  You can also find more information at skdeas.org/research.Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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• Laura Johansen: Triumphs, Challenges, and Hope in Raising a Rare Child

  On this episode of Smiles Included, we sit with Laura Johansen, a resilient mother who shares her heartfelt experiences of raising her 21-year-old son, Duncan, who has only recently been diagnosed with Skraban-Deardorff.  We dive into the early days marked by febrile seizures and delayed development and follow her journey through the complexities associated with this rare condition.  We touch upon Duncan's speech development, school and sports experiences, family dynamic and friendships.  Laura provides great advice for what has worked for her and Duncan along the way.  It's a unique perspective on the joys, challenges, and hopes of raising a child with special needs.  Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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• Jackie and Eddy Jones: A rare disease journey of hope, resilience and vulnerability.....and a golf tournament!

  Today, we're shining a light on a family's journey with their SKDEAS kid and the strength that it has carved out in them. Meet Jackie and Eddie Jones, the remarkable parents of Travis, who open their hearts to us about their path to diagnosis, the challenges they've faced, and the bonds they've built.We journey with Jackie and Eddie as they navigate the complexities surrounding Travis's diagnosis.  We unpack the medical challenges, such as tracheomalacia and eosinophilic esophagitis, that have become a part of their lives. We also step into the shoes of the Jones family as they maneuver through the school system and IEP process, shedding light on the nuances that come with educating a child with special needs.  Eddy Jones provides a father's prospective and the importance of embracing vulnerability to support his family.  And we have some lighthearted content as the Jones Family prepares for the 1st Annual Travis' Troops Golf Tournament on October 15, 2023 in Plainview, Massachussets.   Any support for the event is appreciated and they share some insight into organizing similar events to raise awareness and funds for rare disease.  Find out more at skdeas.org/events or email [email protected] visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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• Allison Pyer: Unraveling the Complexities of the Neurotypical-Neurodiverse Connection

  In today's podcast, I have the pleasure of interviewing my twin sister, Allison Pyer, whom I'm very close to. Both of us have two children each, and her youngest son and my SKDEAS son were born within two weeks of each other. As you can imagine, we had hoped that they would grow up together, reach their developmental milestones at the same time, and become the best of friends.However, life didn't unfold exactly as we had envisioned it, and we've never had an opportunity to discuss how our children feel about each other, until now. In this podcast, Ali and I will have an honest and open conversation about our kids and their relationship, and we hope to share some insights and experiences that might resonate with other parents who are navigating similar situations.Thank you for tuning in, and I hope you enjoy the podcast!Please visit SKDEAS.org for more information about Skraban-Deardorff and how you can support our superheroes.

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